caa a22 4500 467985324 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428298 doi (NATIONALLICENCE)springer-10.1007/BF02428298 ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital [Elektronische Daten] [M. Schwarz, M. Super, C. Wallis, P. Beighton, C. Newton, L. Heptinstall, C. Summers, A. Markham, G. Hambleton, K. Webb, D. Bilto, D. Heaf, M. Dalzell] Summary: Details of haplotype and ΔF508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical status. Clinical details and DNA analyses from native English in the North-West and South-West of England (Bath), from Lancashire Pakistani families and from Afrikaans Namibian families are compared. A 78.5% incidence of ΔF508 has been found in English families. Compound heterozygotes with CF and only one ΔF508 gene have an increased likelihood of having milder disease, with lessPseudomonas isolated from sputum and relatively more showing either no regular respiratory pathogens or colonisation withStaphylococcus. There is also a relative increase in meconium ileus in these compound heterozygotes. The diagnosis of CF may be in doubt in some subjects negative for ΔF508. Some of the Bath families have unusual haplotypes for an English population and a compound heterozygote ΔF508/ΔI507 has been found. There is evidence from metD analysis of the founder effect in the Afrikaans Namibian families, who have a high ΔF508 incidence. Springer-Verlag, 1990 Schwarz M. Clinical Genetics Unit, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut Super M. Clinical Genetics Unit, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut Wallis C. Department of Human Genetics, University of Cape Town, 7925, Cape Town, South Africa aut Beighton P. Department of Human Genetics, University of Cape Town, 7925, Cape Town, South Africa aut Newton C. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut Heptinstall L. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut Summers C. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut Markham A. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut Hambleton G. CF Clinic, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut Webb K. Adult CF Clinic, Monsall Hospital, Manchester, UK aut Bilto D. Adult CF Clinic, Monsall Hospital, Manchester, UK aut Heaf D. CF Clinic, Alder Hey Children's Hospital, Liverpool, UK aut Dalzell M. CF Clinic, Alder Hey Children's Hospital, Liverpool, UK aut Human Genetics Springer-Verlag 85/4(1990-09-01), 428-430 0340-6717 85:4<428 1990 85 439 https://doi.org/10.1007/BF02428298 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428298 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Schwarz M. Clinical Genetics Unit, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut NATIONALLICENCE 700 1- Super M. Clinical Genetics Unit, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut NATIONALLICENCE 700 1- Wallis C. Department of Human Genetics, University of Cape Town, 7925, Cape Town, South Africa aut NATIONALLICENCE 700 1- Beighton P. Department of Human Genetics, University of Cape Town, 7925, Cape Town, South Africa aut NATIONALLICENCE 700 1- Newton C. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut NATIONALLICENCE 700 1- Heptinstall L. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut NATIONALLICENCE 700 1- Summers C. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut NATIONALLICENCE 700 1- Markham A. ICI Diagnostics, Gadbrook Park, Northwhich, Cheshire, UK aut NATIONALLICENCE 700 1- Hambleton G. CF Clinic, Royal Manchester Children's Hospital, M27 1HA, Pendlebury, Manchester, UK aut NATIONALLICENCE 700 1- Webb K. Adult CF Clinic, Monsall Hospital, Manchester, UK aut NATIONALLICENCE 700 1- Bilto D. Adult CF Clinic, Monsall Hospital, Manchester, UK aut NATIONALLICENCE 700 1- Heaf D. CF Clinic, Alder Hey Children's Hospital, Liverpool, UK aut NATIONALLICENCE 700 1- Dalzell M. CF Clinic, Alder Hey Children's Hospital, Liverpool, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 428-430 0340-6717 85:4<428 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer